Version: 8.0.0
Date: Tue Jan 28 2025
muscular dystrophy-dystroglycanopathy type B4
DOID:0112379
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

muscular dystrophy-dystroglycanopathy type B4

Definition
A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
Synonyms
  • congenital muscular dystrophy FKTN-related
  • MDDGB4
Cross References
Parent Terms
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None
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